SRPK3

SRSF protein kinase 3
OMIM: 301002, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SRPK3 in Mendeliome Version 2.636	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Intellectual developmental disorder, X-linked, 114, MIM#301134 Tags digenic
Green SRPK3 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Tags digenic
Green SRPK3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.25	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked, 114, MIM#301134
Green SRPK3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.161	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked, 114, MIM#301134
Amber SRPK3 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.201 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes intellectual developmental disorder, X-linked 114, MONDO:0975828
Amber SRPK3 in Fetal anomalies Version 2.91	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked, 114, MIM#301134